Polyvariant mutant CFTR genes in patients with chronic pancreatitis
- 1 November 1999
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 56 (5) , 401-405
- https://doi.org/10.1034/j.1399-0004.1999.560509.x
Abstract
Several authors have reported an association between mutations of the cystic fibrosis transmembrane conductance regulator gene (CFTR) and chronic pancreatitis. CFTR gene transcription and protein eff...Keywords
This publication has 18 references indexed in Scilit:
- Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation.Journal of Clinical Investigation, 1998
- Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitisGastroenterology, 1997
- Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen geneNature Genetics, 1996
- Mutations in the Cystic Fibrosis Gene in Patients with Congenital Absence of the Vas DeferensNew England Journal of Medicine, 1995
- Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasisHuman Molecular Genetics, 1995
- A mutation in CFTR produces different phenotypes depending on chromosomal backgroundNature Genetics, 1993
- Restriction site generating-polymerase chain reaction (RG-PCR) for the probeless detection of hidden genetic variation: application to the study of some common cystic fibrosis mutationsMolecular and Cellular Probes, 1992
- Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) geneGenomics, 1991
- Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patientsCell, 1990